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Reposted by Tom Wright

Wendy Jones @wendydjones.bsky.social · 25d

www.bbc.co.uk/news/article....

Huntington's disease successfully treated for first time

One of the most devastating diseases finally has a treatment that can slow its progression and transform lives, tearful doctors tell BBC.

www.bbc.co.uk

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Reposted by Tom Wright

alexblakes.bsky.social @alexblakes.bsky.social · Aug 18

I am absolutely delighted to share our work describing a new *recessive* condition caused by variants in #RNU4-2. Yes, that #RNU4-2!

tinyurl.com/3j9r56s8
@rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Genetic variants in RNU4-2, which encodes U4, a key non-coding small nuclear RNA (snRNA) component of the major spliceosome, were recently shown to cause a prevalent neurodevelopmental disorder (NDD) ...

www.medrxiv.org

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Official Manchester Rare Conditions Centre account. @mft-imrare.bsky.social · Jul 31

Article summarising the the key themes identified at the ELSI Conference which look place earlier this year. Highlighting a range of different priorities and challenges of rare condition clinical trials.

A Day of Discussion: The ELSI Conference 2025

Authors: Emily Clarke, Tara Clancy, Amy Hunter, Faye Johnson, Simon Jones, Sinduja Manohar, Gracie Mellalieu, Yvette Mellalieu, Melissa McKie, Arti Patel, Peter Style, Shelley Wagon, Sarah Wynn Introd...

www.linkedin.com

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Reza Maroofian @reza-maroofian.bsky.social · Jul 26

Our new study characterises ELFN1 deficiency as a novel autosomal recessive neurodevelopmental disorder marked by epilepsy, GDD/ID, & movement disorders. Biallelic ELFN1 variants disrupt synaptic protein trafficking to the cell surface—validated through functional assays and mouse/zebrafish models.

Genetics in Medicine @gimjournal.bsky.social · Jul 25

Neurogenetics alert! Biallelic loss of function variants in ELFN1 cause a neurodevelopmental disorder with DD/ID, seizures and movement disorder. bit.ly/4lLrZ46

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Nechama Wieder @nechamawieder.bsky.social · Jul 4

Super excited to share our new review paper - The role of untranslated region variants in Mendelian disease!
www.nature.com/articles/s41...

The role of untranslated region variants in Mendelian disease: a review - European Journal of Human Genetics

European Journal of Human Genetics - The role of untranslated region variants in Mendelian disease: a review

www.nature.com

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Faculty of Humanities @uomhums.bsky.social · Jun 17

New research set to uncover lost ancient medical texts

A team of researchers at @manchester.ac.uk have secured a major €2.5 million grant from the @erc.europa.eu to uncover lost medical writings that could transform our understanding of ancient medicine. ⤵️
www.manchester.ac.uk/about/news/n...

New research set to uncover lost ancient medical texts

A team of researchers at the University of Manchester have secured a major €2.5 million (£2.1 million) grant from the European Research Council to uncover lost medical writings that could transform ou...

www.manchester.ac.uk

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Reposted by Tom Wright

Ben Goldacre @bengoldacre.bsky.social · Jun 17

"Have you thought about applying the @opensafely model, for data privacy and efficiency, to non-health data?"

YES WE HAVE

Behold the new... OpenSAFELY-Schools!!

schools.opensafely.org

OpenSAFELY Schools

A collaboration between the National Institute of Teaching and the Bennett Institute for Applied Data Science

schools.opensafely.org

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European Society of Human Genetics @eshg.bsky.social · Jun 2

New research investigates de novo variants in R-loop forming regions across large-scale genomic datasets identifying RNU2-2 and RNU5B-1 as novel #NDDs genes. Together with RNU4-2, these explain a high number of previously unsolved NDDs cases.
#snRNAs

www.nature.com/articles/s41...

Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes - Nature Genetics

Genomic analyses focused on regions that form R-loops identify rare mutations in RNU2-2 and RNU5B-1 in individuals with neurodevelopmental disorders.

www.nature.com

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Reposted by Tom Wright

geneticbill.bsky.social @geneticbill.bsky.social · Jun 12

Great talk by Jamie Ellingford about UPD as a cause of rare conditions in the 100k Genomes at the ACGS meeting in Birmingham

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geneticbill.bsky.social @geneticbill.bsky.social · Jun 7

Great work published today as preprint on 44k exonerated from the Genes and Health study

www.medrxiv.org/content/10.1...

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity

Genes and Health (G&H) is a biomedical study of adult British-Pakistani and -Bangladeshi research volunteers enriched for autozygosity. We performed whole exome sequencing in 44,028 G&H participants, ...

www.medrxiv.org

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Reposted by Tom Wright

SPiN-Lab Manchester @spinlab.bsky.social · Jun 11

Check out this article by @carolineleacarnall.bsky.social and other members of our Spin Lab team! Funded by @nihr.bsky.social MH-TRC Mission, hosted at @oxhealthbrc.bsky.social: www.sciencedirect.com/science/arti...

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NIHR Oxford Health Biomedical Research Centre @oxhealthbrc.bsky.social · Jun 6

🧠A new study has found that brain stimulation therapy affects brain activity in teenagers with a neurological genetic disorder.

Read more about this NIHR Mental Health Translational Research Collaboration Mission research: tinyurl.com/2v5vcwxw
@manchester.ac.uk

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Reposted by Tom Wright

The University of Manchester @manchester.ac.uk · Jun 4

Good morning Bluesky ☀️

✨ Campus views never disappoint #Manchester #UoM

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Sarah Wynn @sarahlwynn.bsky.social · May 29

Amazing and exciting progress for rare conditions and families @uniquecharity.bsky.social. By all (clinicians, researchers and patients) working together will can continue to drive forward improved diagnosis, care and treatment for all.

Caroline Wright @carolinefwright.bsky.social · May 29

Both translational and fundamental curiosity-driven research are needed to fuel the incredible progress we're seeing in genomic medicine; an important message in this article and and some lovely quotes from @sarahlwynn.bsky.social
www.ft.com/content/25dd...

Curiosity underlies a breakthrough in rare disease

We must recognise and protect the pipelines that lead from research to real-world benefit

www.ft.com

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Reposted by Tom Wright

Caroline Wright @carolinefwright.bsky.social · May 29

Both translational and fundamental curiosity-driven research are needed to fuel the incredible progress we're seeing in genomic medicine; an important message in this article and and some lovely quotes from @sarahlwynn.bsky.social
www.ft.com/content/25dd...

Curiosity underlies a breakthrough in rare disease

We must recognise and protect the pipelines that lead from research to real-world benefit

www.ft.com

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Reposted by Tom Wright

SPiN-Lab Manchester @spinlab.bsky.social · May 29

👋 Bluesky
🔬 We are a research group @fbmh-uom.bsky.social
🧠 We study brain plasticity in neurodevelopment using advanced brain imaging & computational methods
🎯 Our aim is to develop personalised treatments to support learning in children with rare genetic conditions

🔗 spinlab-uom.github.io

Welcome to the SPiN-LAB

Studying Plasticity in Neurodevelopment

spinlab-uom.github.io

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Tom Wright @tomwrightuom.bsky.social · May 29

Wonderful talk Prof Jonathan Green @fbmh-uom.bsky.social CYP & Families Themed Meeting chaired by Shruti Garg & Matthias Pierce 👏

🧠 ‘Re-imagining autism from the inside: neurodiversity, phenomenology and developmental science’

🎧 Check out @acamh.bsky.social podcast open.spotify.com/episode/5g6H...

Neurodiversity, Autism and Healthcare

'Mind the Kids': an ACAMH podcast · Episode

open.spotify.com

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Official Manchester Rare Conditions Centre account. @mft-imrare.bsky.social · May 28

📢Clinicians: This is your last chance to lead the development of new Unique Information Guides for rare genetic neurodevelopmental disorders using a cutting-edge AI solution. Final deadline: 6ᵗʰ June. Submit your proposal here: forms.office.com/e/jziupyz04f
🔗https://mrcc.org.uk/news/2994/

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Reposted by Tom Wright

Caroline Wright @carolinefwright.bsky.social · May 28

Pretty excited about giving Talos a try in the NHS @rdexeter.bsky.social‬. We should definitely be doing regular reanalysis of existing genome-wide sequencing data, just need the right tools!

GenomeSeb @genomeseb.bsky.social · May 26

@zornitza.bsky.social updating on Talos automated reanalysis pipeline #ESHG2025

>250 new diagnosis from 4744 unsolved cases. That’s 5% new extra for <1 variant per case, it’s #scaleable!

Pre-print now out: www.medrxiv.org/content/10.1...

Talos is #portable #opensource: github.com/populationge...

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GenomeSeb @genomeseb.bsky.social · May 26

@zornitza.bsky.social updating on Talos automated reanalysis pipeline #ESHG2025

>250 new diagnosis from 4744 unsolved cases. That’s 5% new extra for <1 variant per case, it’s #scaleable!

Pre-print now out: www.medrxiv.org/content/10.1...

Talos is #portable #opensource: github.com/populationge...

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Reposted by Tom Wright

Nicky Whiffin @nickywhiffin.bsky.social · May 25

Up next: Sid banka on work led by Adam Jackson

R-loops are mutation prone DNA-RNA hybrids - enriched for de novo variants. Compare rare disease (GEL 100k) to population: highest signal for RNU4-2, but also other enriched snRNAs, incl. RNU2-2 & RNU5B-1. Replicated in other cohorts.

#eshg2025 1/2

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Reposted by Tom Wright

Nicky Whiffin @nickywhiffin.bsky.social · May 25

27 patients: RNU2-2
9 patients: RNU5B-1

Characterised related NDDs and expression in brain and retina. Show that variants impact critical residues in structures.

3 snRNA genes described so far together explain ~1.5% of undiag NDD. Remarkable given their small size.

#eshg2025 2/2

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Reposted by Tom Wright

Aleena M Stolworthy @aleenamolbio.bsky.social · May 24

Time to modernise the human reference genome. Karen Miga @humanpangenome.bsky.social on how T2T assemblies open new biological discoveries.
Still one genome cannot represent our genetics diversity, No matter how complete. Incredibly exciting for the global community.
#ESHG2025

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Gerome Breen @psychgenomics.bsky.social · May 26

Group poster today - superstar postdoc @rujiawang.bsky.social will present a predictive model for anxiety disorders and their severity in GLAD and UK Biobank-integrating family history, polygenic risk, childhood trauma, and demographics. Poster P11.084.C, 26/5 from 13:00.

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James Fasham @jamesfasham.bsky.social · May 26

Rob Harkness #ESHG2025

Genetic risk of acute-onset axonal neuropathy following infection

RCC1 is novel AR #DiseaseGene

Onset ~18m #GuillianBarre-like
Clinical course #ALS-like

Proteins reduced thermal stability
🪰 reduced survival to paraquat stress

papers.ssrn.com/sol3/papers....

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